Albright's hereditary osteodystrophy: report of three cases
Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathy...
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Veröffentlicht in: | Archivos argentinos de pediatría 2010-04, Vol.108 (2), p.e24-e27 |
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Format: | Artikel |
Sprache: | spa |
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Zusammenfassung: | Albright's hereditary osteodystrophy includes an heterogeneous group of genetic diseases, including the pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism. Features of this disease are: round faces, over-weight, subcutaneous calcifications and brachydactylia. Pseudohypoparathyroidism type Ia is associated with laboratory abnormalities such as hypocalcemia, and hyperphosphatemia due to parathormone resistance. Furthermore, these patients may present peripheral resistance to other hormones, such as gonadotrophins and thyroids. Pseudo-pseudohypoparathyroidism has no peripheral resistance to these hormones. We present three patients evaluated in our hospital with clinical manifestations of Albright's syndrome. |
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ISSN: | 1668-3501 |
DOI: | 10.1590/S0325-00752010000200012 |